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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00165 | Tyrosinemia | ... I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This disorder is associated with liver failure, painful neurologic crises, rickets, and hepatocarcinoma ... | Inherited metabolic disorder |
(TYRSN1) FAH [HSA:2184] [KO:K01555] (TYRSN2) TAT [HSA:6898] [KO:K00815] (TYRSN3) HPD [HSA:3242] [KO:K00457] |
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| H00268 | Lissencephaly | Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. | Congenital malformation |
(LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794] (LIS2) RELN [HSA:5649] [KO:K06249] (LIS3) TUBA1A [HSA:7846] [KO:K07374] (LIS4) NDE1 [HSA:54820] [KO:K16738] (LIS5) LAMB1 [HSA:3912] [KO:K05636] (LIS6) KATNB1 [HSA:10300] [KO:K18643] (LIS7) CDK5 [HSA:1020] [KO:K02090] (LIS8) TMTC3 [HSA:160418] [KO:K23424] (LIS9) MACF1 [HSA:23499] [KO:K19827] (LIS10) CEP85L [HSA:387119] [KO:K16766] (LISX1) DCX [HSA:1641] [KO:K16579] (LISX2) ARX [HSA:170302] [KO:K09452] |
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| H01574 |
Familial idiopathic basal ganglia calcification Bilateral striopallidodentate calcinosis (BSPDC) Fahr disease |
Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known ... | Nervous system disease |
(IBGC1) SLC20A2 [HSA:6575] [KO:K14640] (IBGC4) PDGFRB [HSA:5159] [KO:K05089] (IBGC5) PDGFB [HSA:5155] [KO:K17386] (IBGC6) XPR1 [HSA:9213] [KO:K24195] (IBGC7) MYORG [HSA:57462] [KO:K24727] (IBGC8) JAM2 [HSA:58494] [KO:K06735] (IBGC9) NAA60 [HSA:79903] [KO:K21121] |
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| H02633 | Beck-Fahrner syndrome | Beck-Fahrner syndrome (BEFAHRS) is a neurodevelopmental syndrome that shows global developmental delay and/or intellectual disability and other neurological manifestations, growth abnormalities, and characteristic ... | Congenital malformation | TET3 [HSA:200424] [KO:K24309] |
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